loading...| Preferred Name | X-linked lymphoproliferative syndrome | |
| Synonyms |
lymphoproliferative syndrome, X-linked, type 1 X-linked lymphoproliferative syndrome type 1 XLP1 lymphoproliferative syndrome, X-linked, 1 X-linked lymphoproliferative disease lymphoproliferative syndrome X-linked 1 SH2D1A-related lymphoproliferative disease, X-linked X-linked lymphoproliferative syndrome 1 XLP lymphoproliferative syndrome, X-linked X linked Lymphoproliferative Syndrome X-linked lymphoproliferative syndrome Purtilo syndrome Duncan disease |
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| Definitions |
X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV). |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0010627 |
|
| database_cross_reference |
Orphanet:2442 ICD9:238.79 MEDGEN:107498 NCIT:C61246 MedDRA:10068348 DOID:0060705 UMLS:C0549463 SCTID:77121009 NANDO:1200351 NANDO:2200725 GARD:10915 NORD:1865 |
|
| definition |
X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV). |
|
| has_exact_synonym |
lymphoproliferative syndrome, X-linked X linked Lymphoproliferative Syndrome X-linked lymphoproliferative syndrome Purtilo syndrome Duncan disease |
|
| has_narrow_synonym |
lymphoproliferative syndrome, X-linked, type 1 X-linked lymphoproliferative syndrome type 1 XLP1 |
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| has_related_synonym |
lymphoproliferative syndrome, X-linked, 1 X-linked lymphoproliferative disease lymphoproliferative syndrome X-linked 1 SH2D1A-related lymphoproliferative disease, X-linked X-linked lymphoproliferative syndrome 1 XLP |
|
| id |
MONDO:0010627 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#prototype_pattern |
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| label |
X-linked lymphoproliferative syndrome |
|
| notation |
MONDO:0010627 |
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| preferred label |
X-linked lymphoproliferative syndrome |
|
| prefLabel |
X-linked lymphoproliferative syndrome |
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| see also |
https://rarediseases.info.nih.gov/diseases/7906/x-linked-lymphoproliferative-syndrome-1 |
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| skos_closeMatch | ||
| skos_exactMatch |
http://purl.obolibrary.org/obo/Orphanet_2442 http://identifiers.org/medgen/107498 http://purl.obolibrary.org/obo/NCIT_C61246 http://identifiers.org/snomedct/77121009 |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0016537 |
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| excluded_subClassOf |